Fwd: Orphanews Europe 4 July 2012

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José Antonio Navarro

Jul 4, 2012, 6:51:34 AM7/4/12
Os remito el último boletín de Orphanews por si alguno de los aspectos tratados pudieran ser de interés. Recordar que este boletín solo se  difunde en inglés.

Un cordial saludo a todos.

José Antonio Navarro

---------- Forwarded message ----------
From: <orphanew...@orpha.net>
Date: 2012/7/4
Subject: Orphanews Europe 4 July 2012
To: jana...@yahoo.es

OrphaNews Europe : 4 July 2012
Fifth meeting of the EUCERD moves rare disease actions forward in key areas

National & International Policy Developments
Ireland opens consultation process for developing a national rare disease plan
New rare disease umbrella group in Austria involved in drafting of a national plan
Other European news
CIBERER and the Spanish National Center for Genome Analysis boost genomic research on rare diseases
Two new publications from France’s National Cancer Institute describe activities to identify and treat hereditary cancers
Other International News
Article in popular Indian newspaper calls for a collaborative stakeholder effort to address rare disease issues
Guidance Documents and Recommendations
Juvenile dermatomyositis: consensus treatment plans for moderate forms established with the Childhood Arthritis and Rheumatology Research Alliance (CARRA)
Hepatocellular carcinoma: EASL-EORTC clinical practice guidelines now available
MUTYH-associated polyposis: indications for genetic testing and clinical management recommendations
Fibrous dysplasia of bone: best clinical practices
Cherubism: best clinical practices
Urea cycle disorders: suggested guidelines for diagnosis and management

Orphanet News
Orphanet Report Series on Prevalence updated in all languages
Two new rare disease emergency guidelines available in Spanish language

New Syndromes
A novel type of keratinocytic nevus named PENS and that may be associated with neurologic troubles in a syndromic form
Intellectual disability, developmental delay, and autistic features associated with microduplication 2q23.1
A new lysosomal storage disorder has the morphological anomalies of Morquio syndrome but without any enzymatic defect
High bone mineral density osteogenesis imperfecta due to mutations affecting collagen maturation
A gastric polyposis syndrome restricted to the proximal stomach where it can progress to dysplasia and gastric adenocarcinoma
Congenital nephrotic syndrome, interstitial lung disease and epidermolysis bullosa in three children with integrin α3 mutations

New Genes
Autosomal dominant limb-girdle muscular dystrophy: mutations of the cytoplasmic isoform of the co-chaperone DNAJB6 induce proteins aggregation in muscle
Baraitser-Winter syndrome is the predominant phenotype associated with mutations in ACTB and ACTG1 confirming the role of actin in lissencephaly
Bone sarcoma: BCOR-CCNB3 gene fusion defines a new subtype and highlights mechanisms of oncogenesis for other forms
Primary ciliary dyskinesia : loss-of-function mutations of DNAAF3 disrupt assembly of dynein arms and ciliary motility
TAR syndrome is due to a protein Y14 deficiency induced by a compound inheritance associating a null allele and a low frequency-regulatory copy of RBM8A
Nicolaides-Baraitser syndrome: SMARCA2 mutations disrupt ATPase activity of a chromatin remodeling complex
Ravine syndrome: mutation in a primate-conserved retrotransposon induces neuronal death by reducing expression of a noncoding RNA
Joubert syndrome: C5orf42 mutations explain a large portion of French Canadian affected individuals
Amelo-cerebro-hypohidrotic syndrome: loss-of-function mutations of ROGDI have adverse effects when homozygous or compound heterozygous
Diaphyseal medullary stenosis-bone malignancy: mutations in a retroviral-derived exon of MTAP suggest that this gene can act as a tumor suppressor
Acrodysostosis: PDE4D mutations involving the cAMP signaling pathway induce a phenotype with characteristic midface and moderate intellectual disability
Zunich-Kaye syndrome is due to impaired glycosylphosphatidylinositol biosynthesis induced by PIGL mutations
Syndromic diarrhea: cases with SKIV2L mutations confirm a link between defects of the exosome complex
Hereditary breast cancer: XRCC2 expands the list of susceptibility genes associated with an homologous recombination-DNA-repair dysfunction and Fanconi anemia
Autosomal recessive malignant osteopetrosis: a mutation found in SNX10 could result in a defect of V-ATPase trafficking impairing resorption lacuna
Early onset autosomal dominant Alzheimer disease: a genetic heterogeneity involving the same pathway and including SORL1 besides APP and PSEN genes
Kallmann syndrome, combined pituitary hormone deficiencies, and septo-optic dysplasia: a spectrum of anterior midline anomalies with genetic overlap
Isolated NADH-CoQ reductase deficiency: MTFMT, ACAD9, NDUFB3, NDUFS3 and NDUFS8 mutations identified with exome sequencing coupled with functional analysis
Hemimegalencephaly: somatic activating mutations of AKT3 limited to the brain cause overgrowth of one cerebral hemisphere
Monomelic amyotrophy: KIAA1377 and C5orf42 identified as susceptibility genes in patients carrying mutations in one or both of them

Research in Action
Two new review articles focus on the mitochondrial disorders
Cystic fibrosis: a review of causes, effects and therapeutic tools including animal models of the disease
Fundamental Research
Lowe disease: a zebrafish model reveals that OCLR1 contributes to primary cilia assembly in acting into protein trafficking
Kawasaki disease: critical role of interleukin-1β in coronary lesions shown in a mouse model suggests anti-IL-1β therapy
Fetal methylmercury (MeHg) syndrome: increased neuronal Ca2+ spike frequency rescues granule cell migration in mice exposed to MeHg for short periods
Amyotrophic lateral sclerosis: key mechanisms, in particular vulnerability to PI3K inhibition, revealed by iPSCs derived from a patient with a TDP-43 mutation
Williams syndrome: an illustration of the influence of genes on behavior via the neural system
Isolated NADH-CoQ reductase deficiency: a KO NDUFS6 mouse model generated by gene-trapping and inducing primarily a cardiac phenotype
Mechanisms and response to drugs of familial isolated dilated cardiomyopathy can be modeled by cardiomyocytes generated from iPSCs derived from patients
Clinical Research
Chordoma: imatinib has antitumour effects in advanced cases but its therapeutic action remains to be demonstrated
Children with juvenile idiopathic arthritis have a higher risk of developing malignancy whatever their treatment
Behcet disease: infliximab has a well tolerated activity inducing and maintaining remission of vasculitic manifestations
Familial hemophagocytic syndromes: degranulation assays allow a rapid and reliable classification of patients
Severe primary immunodeficiency diseases: a neonatal screening based on a novel PCR method measuring levels of markers of T and B cell production
Severe combined immunodeficiency: grafts of stem cells from a mismatched related-donor and from the umbilical cord of an unrelated donor are both valid options
Frontotemporal dementia is more frequently associated with amyotrophic lateral sclerosis in patients with expanded repeats in C9ORF72
Acute lymphoblastic leukemia: inotuzumab ozogamicin, an antibody against a CD highly expressed in patients, is promising in refractory and relapsed cases
A defibrotide prophylaxis lowers the incidence of hepatic veno-occlusive in paediatric haemopoietic stem-cell transplantation recipients
Stem Cells
Chronic granulomatous disease: a model generated in vitro from human induced pluripotenty stem cells lines derived from patients
Gene Therapy
Haemophilia B: factor IX expression in skeletal muscle of a patient 10 years after AAV-mediated gene transfer
Haemophilia A: recombinant factor VIII Fc fusion protein provides prolonged protection in humans, mice and dogs allowing less frequent dosing
Autosomal recessive limb-girdle muscular dystrophy type 2F is ameliorated in hamsters by gene delivery of MG53 essential for sarcolemmal membrane repair
Xeroderma pigmentosum complementation group C: first long-term genetic correction of human XP-C epidermal stem cells
Methylmalonic acidaemia due to complete methylmalonyl-CoA mutase deficiency: an AAV with renal tropism restores MCM function in a murine model
Sustained correction of ornithine transcarbamylase deficiency in mice with a self-complementary AAV optimized in order to increase OTC expression
A helper-dependent adenovirus encoding a human G6Pase transgene increases lifespan of dogs with glycogenosis due to G6P deficiency type A
Hurler syndrome: injection of encapsulated engineered myoblasts overexpressing IDUA reduce glycosaminoglycan accumulation in a mouse model
Therapeutic Approaches
Neuromyelitis optica: new therapeutic approaches based on the blocking of the autoantibodies anti-aquaporin-4 or the inhibition of a neutrophil protease
Duchenne muscular dystrophy progression is attenuated by elimination of fibrin-driven inflammation coupled to the αMβ2 leukocyte integrin receptor
Phenylketonuria: novel pharmalogical chaperones restoring PAHV106A variant function in mice but not yet tested for other PAH mutations
Rett syndrome: inhibition of the glucocorticoid system of a mouse model has a positive impact contrary to its activation
Fabry disease: pharmacological chaperone AT1001 improves enzyme replacement therapy with the recombinant human α-Gal A in mice
Retinitis pigmentosa: intravitreal STC-1 reduces oxidative stress, decreases loss of photoreceptors and improves retinal function measured by ERG
MELAS and MERRF syndromes: RNA import into mitochondria provides an approach for treating disorders due to mitochondrial DNA defects
Duchenne muscular dystrophy: Hsp72 overexpression improves Ca2+ handling by protecting SERCA and slows muscle degeneration in mice
Chronic pharmalogical mGlu5 inhibition corrects a broad spectrum of Fragile X syndrome phenotypes in adult mice

Patient Management and Therapy
Adiposis dolorosa (Dercum’s disease): a review with proposal of diagnostic criteria, diagnostic methods, classification and management
Haemophilia: a review of past, present and future of treatment
Hepatocellular carcinoma: an update including major advances in prevention, detection, diagnosis, and treatment
Multiple system atrophy: premotor symptoms should allow diagnosis of early stages
Multiple myeloma: a review of results obtained with novel drugs for maintenance treatment
Eight new Clinical Utility Gene Cards available
CDG syndrome: a review of inherited glycosylation disorders
Haemophilia: what care in 2012?
Retinoblastoma: global digital communications present opportunities to optimise standards of care for children around the world
Care for proximal spinal muscular atrophy: consensus and controversies
Dengue: an expanding disease
X-linked retinoschisis: from RS1 protein to the disease not forgetting the RS1 gene
Congenital myasthenic syndromes: 186th ENMC International Workshop
Fragile X syndrome, and X-linked syndromic and nonsyndromic intellectual deficit: the contributions from genetics
Cystic fibrosis: an update on the screening, diagnosis, management, and treatment of vitamin D deficiency

Orphan Drugs
Regulatory News
Nine positive opinions recommending orphan designation adopted at the June COMP meeting
CHMP recommends approval of first treatment in the EU for short bowel syndrome

Histiocytosis Association announces launch of 2012 Research Grant Application

Courses & Educational Initiatives
Summer School for Clinical Practice Guidelines on Rare Diseases
Epidermolysis Bullosa – An Introduction and Advanced Management courses
Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
IberoAmerican Course for the Multidisciplinary Study of Movement Disorders: Parkinson Disease and Spinocerebellar Ataxias
Master of Science in Haemoglobinopathy
The European School of Haematology distance learning tools
Orphan Academy 2012 Programme
EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops

What's on Where?
World Federation of Hemophilia World Congress
Retina International World Congress
7th Annual Rare Disease and Orphan Drug Leadership Congress
3rd Annual Orphan Drug Summit
7th European Elastin Meeting
13th International Workshop on Multiple Endocrine Neoplasia
The 13th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2012)
First International Symposium on the Ehlers-Danlos Syndrome
Joint DIA/ EFGCP/ EMA Medicines for Children Conference on Development of Paediatric Medicines: From Learning to Adapting
15th Biennial Meeting of the European Society for Immunodeficiencies
Mechanisms of Intellectual Disability: From Genes to Treatment
EpiRare International Workshop: Rare Disease and Orphan Drug Registries
Second International Conference on Esophageal Atresia: From the Fetus to the Adult
Orphan Drugs & Rare Diseases Conference
15th Society for the Study of Behavioural Phenotypes
3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation
International Ataxia Research Conference
8th International Society for Newborn Screening European Regional Meeting
6th International Symposium on Childhood MDS and Bone Marrow Failure syndromes
3rd Annual World Orphan Drug Congress
10th Asia-Pacific Conference on Human Genetics
7th Alstrom Syndrome International Family Conference and Scientific Symposium
8th International Prader-Willi Syndrome Conference

Media, Press & Publications
Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing
A new text provides an understanding of dental genetics and related conditions
Old and new entities with Rett or Angelman syndrome-like intellectual disability
Glycoland and the Coloured Antennas helps children make sense of a rare metabolic disease

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